Varaico: Literature-Extracted Genetic Variants

Gene:LRP4
Variant:p.V1252A
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LRP4

NM_002334.4:p.V1252A

Associated Papers

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.

Ohkawara B et al.

Human Molecular Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."